Association of genetic variants of human telomerase with colorectal polyps and colorectal cancer risk
Autor: | Kathrin Bernhart, Philipp Hofer, Gernot Leeb, Andreas Baierl, Michael Micksche, Karl Mach, Andrea Gsur |
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Rok vydání: | 2012 |
Předmět: |
Male
Oncology Cancer Research medicine.medical_specialty Telomerase Colorectal cancer Colonic Polyps Colonoscopy Single-nucleotide polymorphism Biology Bioinformatics Polymorphism Single Nucleotide White People Gene Frequency Internal medicine medicine Humans Genetic Predisposition to Disease Telomerase reverse transcriptase neoplasms Molecular Biology Allele frequency Aged Aged 80 and over medicine.diagnostic_test Middle Aged medicine.disease digestive system diseases Logistic Models Haplotypes Austria Case-Control Studies Colorectal Polyp Chromosomes Human Pair 5 Population study Female Colorectal Neoplasms |
Zdroj: | University of Vienna-u:cris |
ISSN: | 0899-1987 |
Popis: | Human telomerase reverse transcriptase (TERT) gene encodes the catalytic subunit of telomerase and is located on chromosome 5p15, a genomic region which was found to be associated with multiple cancer types. But no associations with colorectal cancer (CRC) have been reported until recently. Therefore, the purpose of this study was to investigate the influence of seven single-nucleotide polymorphisms (SNPs) of TERT on susceptibility to colorectal polyps and CRC. The study population of our ongoing colorectal cancer study of Austria (CORSA) comprised 3,842 Caucasian participants. A total of 3,264 participants was genotyped including 142 CRC cases, 492 high-risk polyps, 837 low-risk polyps, and 1,793 polyp-free controls verified by colonoscopy. Genotyping was performed by TaqMan assay using genomic DNA. The impact of each SNP was estimated by multiple logistic regression analyses performed with R Version 2.11.1. None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, rs2075786, rs2736100, rs4975605) were found to be associated with risk of CRC nor colonic polyps. However, the haplotype CGTATGG was associated with a significantly increased risk of high-risk polyps (OR = 1.48, 95% CI 1.01-2.17, P = 0.043). In accordance with other studies our results suggest no major influence of the investigated TERT SNPs on CRC and colorectal polyp risk. However, relevance of telomerase in tumorigenesis of multiple malignancies demands further investigations of the 5p15 locus concerning CRC susceptibility. |
Databáze: | OpenAIRE |
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